MCID: CHR359
MIFTS: 11

Chronic Infections, Due to Mbl Deficiency malady

Category: Genetic diseases (common)

Aliases & Classifications for Chronic Infections, Due to Mbl Deficiency

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Aliases & Descriptions for Chronic Infections, Due to Mbl Deficiency:

Name: Chronic Infections, Due to Mbl Deficiency 49 11

Classifications:



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OMIM49 614372

Summaries for Chronic Infections, Due to Mbl Deficiency

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OMIM:49 Mannose-binding lectin (MBL) deficiency, defined as MBL protein level of less than 100 ng/ml, is present in about 5% of... (614372) more...

MalaCards based summary: Chronic Infections, Due to Mbl Deficiency is related to tooth agenesis, selective, 5. An important gene associated with Chronic Infections, Due to Mbl Deficiency is MBL2 (Mannose Binding Lectin 2). Affiliated tissues include liver.

Related Diseases for Chronic Infections, Due to Mbl Deficiency

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Diseases related to Chronic Infections, Due to Mbl Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1tooth agenesis, selective, 59.5EFEMP2, MBL2

Symptoms for Chronic Infections, Due to Mbl Deficiency

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Clinical features from OMIM:

614372

Drugs & Therapeutics for Chronic Infections, Due to Mbl Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Chronic Infections, Due to Mbl Deficiency

Genetic Tests for Chronic Infections, Due to Mbl Deficiency

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Anatomical Context for Chronic Infections, Due to Mbl Deficiency

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MalaCards organs/tissues related to Chronic Infections, Due to Mbl Deficiency:

33
Liver

Animal Models for Chronic Infections, Due to Mbl Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Chronic Infections, Due to Mbl Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Chronic Infections, Due to Mbl Deficiency

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Variations for Chronic Infections, Due to Mbl Deficiency

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Clinvar genetic disease variations for Chronic Infections, Due to Mbl Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MBL2NM_000242.2(MBL2): c.161G> A (p.Gly54Asp)single nucleotide variantPathogenicrs1800450GRCh37Chr 10, 54531235: 54531235
2MBL2NM_000242.2(MBL2): c.170G> A (p.Gly57Glu)single nucleotide variantPathogenicrs1800451GRCh37Chr 10, 54531226: 54531226
3MBL2NM_000242.2(MBL2): c.154C> T (p.Arg52Cys)single nucleotide variantPathogenicrs5030737GRCh37Chr 10, 54531242: 54531242

Expression for genes affiliated with Chronic Infections, Due to Mbl Deficiency

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Search GEO for disease gene expression data for Chronic Infections, Due to Mbl Deficiency.

Pathways for genes affiliated with Chronic Infections, Due to Mbl Deficiency

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GO Terms for genes affiliated with Chronic Infections, Due to Mbl Deficiency

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Molecular functions related to Chronic Infections, Due to Mbl Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:00055099.1EFEMP2, MBL2

Sources for Chronic Infections, Due to Mbl Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet